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Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants
Daniel N. Frank, Arnaud P. J. Giese, Lena Hafren, Tori C. Bootpetch, Talitha Karisse L. Yarza, Matthew J. Steritz, Melquiadesa Pedro, Patrick John Labra, Kathleen A. Daly, Ma. Leah C. Tantoco, Wasyl Szeremeta, Maria Rina T. Reyes-Quintos, Niaz Ahankoob, Erasmo Gonzalo d.V. Llanes, Harold S. Pine, Sairah Yousaf, Diana Ir, Elisabet Einarsdottir, Rhodieleen Anne R. de la Cruz, Nanette R. Lee, Rachelle Marie A. Nonato, Charles E. Robertson, Kimberly Mae C. Ong, Jose Pedrito M. Magno, Alessandra Nadine E. Chiong, Ma. Carmina Espiritu-Chiong, Maria Luz San Agustin, Teresa Luisa G. Cruz, Generoso T. Abes, Michael J. Bamshad, Eva Maria Cutiongco-de la Paz, Juha Kere, Deborah A. Nickerson, Karen L. Mohlke, Saima Riazuddin, Abner Chan, Petri S. Mattila, Suzanne M. Leal, Allen F. Ryan, Zubair M. Ahmed, Tasnee Chonmaitree, Michele M. Sale, Charlotte M. Chiong, Regie Lyn P. Santos-Cortez

Journal of Medical Genetics Jul 2021, 58 (7) 442-452; DOI: 10.1136/jmedgenet-2020-106844
Mutation in CATIP (C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics
Maram Arafat, Avi Harlev, Iris Har-Vardi, Eliahu Levitas, Tsvia Priel, Moran Gershoni, Charles Searby, Val C Sheffield, Eitan Lunenfeld, Ruti Parvari

Journal of Medical Genetics Feb 2021, 58 (2) 106-115; DOI: 10.1136/jmedgenet-2019-106825
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension
Pau Puigdevall, Lucilla Piccari, Isabel Blanco, Joan Albert Barberà, Dan Geiger, Celia Badenas, Montserrat Milà, Robert Castelo, Irene Madrigal

Journal of Medical Genetics Jul 2019, 56 (7) 481-490; DOI: 10.1136/jmedgenet-2018-105669
Genetic variants in CHI3L1 influencing YKL-40 levels: resequencing 900 individuals and genotyping 9000 individuals from the general population
Alisa D Kjaergaard, Julia S Johansen, Børge G Nordestgaard, Stig E Bojesen

Journal of Medical Genetics Dec 2013, 50 (12) 831-837; DOI: 10.1136/jmedgenet-2013-101908
KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability
Namik Kaya, Maysoon Alsagob, Maria Cristina D'Adamo, Albandary Al-Bakheet, Sonia Hasan, Maria Muccioli, Faten B Almutairi, Rawan Almass, Mazhor Aldosary, Dorota Monies, Osama M Mustafa, Banan Alyounes, Rosan Kenana, Jawaher Al-Zahrani, Eva Naim, Faisal S Binhumaid, Alya Qari, Fatema Almutairi, Brian Meyer, Timothy F Plageman, Mauro Pessia, Dilek Colak, Mohammed Al-Owain

Journal of Medical Genetics Nov 2016, 53 (11) 786-792; DOI: 10.1136/jmedgenet-2015-103637
Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population
Hansoo Park, Seungbok Lee, Hyun-Jin Kim, Young Seok Ju, Jong-Yeon Shin, Dongwan Hong, Marcin von Grotthuss, Dong-Sung Lee, Changho Park, Jennifer Hayeon Kim, Boram Kim, Yun Joo Yoo, Sung-Il Cho, Joohon Sung, Charles Lee, Jong-Il Kim, Jeong-Sun Seo

Journal of Medical Genetics Dec 2012, 49 (12) 747-752; DOI: 10.1136/jmedgenet-2012-101209
UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
Yonatan Perez, Rotem Kadir, Michael Volodarsky, Iris Noyman, Hagit Flusser, Zamir Shorer, Libe Gradstein, Ramon Y Birnbaum, Ohad S Birk

Journal of Medical Genetics Jun 2016, 53 (6) 397-402; DOI: 10.1136/jmedgenet-2015-103352
Epigenetic inheritance of telomere length obscures identification of causative PARN locus
Chao Xing, Christine Kim Garcia

Journal of Medical Genetics May 2016, 53 (5) 356-358; DOI: 10.1136/jmedgenet-2015-103685
Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A
Umm-e- Kalsoom, Eva Klopocki, Naveed Wasif, Muhammad Tariq, Saadullah Khan, Jochen Hecht, Peter Krawitz, Stefan Mundlos, Wasim Ahmad

Journal of Medical Genetics Jan 2013, 50 (1) 47-53; DOI: 10.1136/jmedgenet-2012-101219
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
Çiğdem Köroğlu, Mehmet Seven, Aslıhan Tolun

Journal of Medical Genetics Aug 2013, 50 (8) 515-520; DOI: 10.1136/jmedgenet-2013-101634

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